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Please note: While some information will still be current in a year, other information may already be out of date in three months time. If you are in any doubt, please feel free to ask.


May I ask you whether regarding the current level of research (+ 1900 identified mutations and the importance of modifier genes) a study on the mutation and modifier genes that parents passed, would not be a source of useful information for the development of a treatment adapted to the patient?
In other words, what is that despite being carrier, they have not developed the disease?
Thank you for your response.

Research on modifier genes seeks to identify different genes of the cystic fibrosis gene, the CFTR gene, but which can modify the phenotype, i.e. the expression of the disease, its symptoms, evolution and appearance of complications. The objective of the research is to identify how such genes can explain the differences of evolution (phenotype) of patients who nevertheless have the same mutations in the CFTR gene, ie a different phenotype despite a same CFTR genotype.

Only people who carry two CFTR mutations, one transmitted from the father, the other from the mother, can express the disease. People who carry a single mutation cannot express the disease. They are healthy carriers of a mutation in the CFTR gene: the effect of modifier genes cannot be observed on the expression of a disease that they do not have.

Hoping to have answered your question.
Best regards and best wishes for the new year,

Gilles RAULT, MD, Roscoff CF Center